Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance calledganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase. Tay-Sachs disease appear to develop normally for the first few months of life then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs.
Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in.
Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.
Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance calledganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase. Tay-Sachs disease appear to develop normally for the first few months of life then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs.
Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in.
Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.